NM_000492.4(CFTR):c.3728T>A (p.Leu1243Ter) AND Cystic fibrosis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 5, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000757841.2
Allele description [Variation Report for NM_000492.4(CFTR):c.3728T>A (p.Leu1243Ter)]
NM_000492.4(CFTR):c.3728T>A (p.Leu1243Ter)
Condition(s)
Assertion and evidence details
Last Updated: Dec 11, 2022